SPG4型和SPG31型遗传性痉挛性截瘫的MRI研究

杨永芳; 高佩虹; 车峰远

中国临床医学影像杂志 ›› 2011, Vol. 22 ›› Issue (4) : 254-257.

论著

SPG4型和SPG31型遗传性痉挛性截瘫的MRI研究

杨永芳1，高佩虹2，车峰远2

作者信息 +

Features of MRI in hereditary spastic paraplegia due to spastin mutation and REEP1 mutation

YANG Yong-fang1, GAO Pei-hong2, CHE Feng-yuan2

Author information +

文章历史 +

摘要

目的：探讨SPG4型和SPG31型遗传性痉挛性截瘫（HSP）的MRI特征。方法：对经基因确诊的SPG4型和SPG31型2个家系8例HSP患者的MRI图像进行分析，并与16例性别及年龄相匹配的健康对照者MRI图像进行对照研究。采用1.5T MRI扫描仪对24例受试者行颅脑及脊髓MRI检查，分别测量C2、C7、T4、T9椎体水平脊髓横断面积，测量结果进行统计学分析。结果：8例患者颅脑MRI检查均未见明显异常。SPG31型HSP患者C2、C7、T4、T9椎体水平脊髓横断面积分别是（50.13±3.43）mm2、（40.45±2.00）mm2、（22.03±4.55）mm2、（26.10±4.55）mm2，与其对照组间差异有统计学意义（P值均<0.007）。SPG4型HSP患者脊髓横断面积与其对照组间差异无统计学意义。结论：SPG4型和SPG31型HSP患者颅脑MRI表现正常；SPG4型HSP患者脊髓MRI未见异常；SPG31型HSP患者可见颈髓及胸髓萎缩，蛛网膜下腔扩大。

Abstract

Objective: To investigate features of the magnetic resonance imaging in two pedigrees with hereditary spastic paraplegia type 4 and type 31. Methods: Eight HSP patients in two families were determined as SPG4 or SPG31 by genetic linkage analysis. MRI of brain and the whole spinal cord were performed in these 8 patients and 16 age- and gender-matched control subjects utilizing a 1.5T magnet. Cross-sectional areas of the spinal cord at the levels of C2, C7, T4, T9 were measured and data was statistically analyzed using the student’s t test, an association between the spinal cord size and severity of the disease was analyzed using the spearman rank correlation test. Results: All patients had grossly normal MRI of the brain. The cross-sectional areas of SPG31 subjects at the levels of C2, C7, T4, T9 were (50.13±3.43)mm2, (40.45±2.00)mm2, (22.03±4.55)mm2, (26.10±4.55)mm2 respectively. All of these values were less than those in the healthy controls(t=6.331, 6.889, 4.647, 3.345 respectively, P<0.007）. While analysis of the cross-sectional areas in SPG4 subjects had no significant abnormalities. There was no association between the degree of spinal cord atrophy and severity and duration of the disease in these two genetic subtypes of HSP. Conclusions: The degree of spinal cord atrophy varies among different genetic types of HSP. Cervical and thoracic MRI of SPG31 subjects revealed atrophies of the spinal cord and enlarged subarachnoid cavity.

导出引用

杨永芳;高佩虹;车峰远. SPG4型和SPG31型遗传性痉挛性截瘫的MRI研究[J]. 中国临床医学影像杂志. 2011, 22(4): 254-257

YANG Yong-fang;GAO Pei-hong;CHE Feng-yuan. Features of MRI in hereditary spastic paraplegia due to spastin mutation and REEP1 mutation[J]. Journal of China Clinic Medical Imaging. 2011, 22(4): 254-257

中图分类号： R682.22 R741 R445.2